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8 Implications for Society The applications and implications for biology and medicine of a project to map and sequence the human genome have been mentioned often in this report. In this final chapter we discuss some of the other issues for society, including the commercial, legal, and ethical impli- cations of such a project. COMMERCIAL AND LEGAL IMPLICATIONS Mapping and sequencing the human genome will result in new information and materials of potential commercial value, for example, clones that encode previously undiscovered hormones, growth factors, or mediators of immunity. The commercial value of these resources raises questions concerning possible copyright protection of the data and ownership of the intellectual property and materials generated by participants in the human genome project. Should it be possible to copyright sequences from the human genome and, if so, by whom? Should a central agency of the government own the patents for new materials, such as DNA clones generated by this project? What are the implications for international collaboration? Because these are complex issues requiring study by scientists, lawyers, and policy- makers, the committee believes that they should be given prompt study by an independent body. It is important to resolve the legal issues concerning the conduct of the human genome project. Abso- lutely essential to the success of the project will be cooperation between laboratories and centers within the United States and internationally and the ready availability of data and materials to all 99

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loo MAPPING AND SEQUENCING THE HUMAN GENOME participants. This committee believes that human genome sequences should be a public trust and therefore should not be subject to copyright. ETHICAL AND SOCIAL IMPLICATIONS Whatever its scientific merits, a concerted effort to map and sequence the human genome would have profound social significance. Human beings are fascinated with the reasons we are what we are, both for what those reasons tell us about ourselves and for the insights they give us into those around us. In this context, the prospect of a complete biological book on humankind provokes both excitement and concern and raises philosophical and ethical questions. Three sorts of questions seem particularly important to reflect upon in advance of any genome mapping and sequencing effort: How should the project proceed? How should the information be interpreted? To what use should the resulting information be applied? None of these are new questions for human geneticists. In fact, the ethical and social challenges presented by a human genome mapping and sequencing project are;largely the same as those already addressed by scientists, clinicians, patients, and policymakers in other settings (Macklin, 19851. Still, the scale and significance of this project require that these questions be carefully assessed in this context. Conductirlg a Genome Mapping arid Sequencing Project The ethical considerations involved in conducting this project are shared by those conducting any biomedical analysis of human tissue. One consideration concerns privacy and confidentiality. The privacy and autonomy of the individuals who contribute the material studied must be protected. For most research in this project, this goal is easily accomplished: The isolated cell lines and genetic materials analyzed will come from a wide variety of sources, through standard channels designed to preserve the confidentiality of the contributors and ensure that their participation is voluntary (U.S. Congress, House Committee on Science and Technology, 1986~. However, where family histories are studied to produce genetic linkage maps, geneticists will sometimes face ethical dilemmas over maintaining confidentiality or disclosing research findings to a relative discovered to be at risk for genetic disease. Again, this is not a new problem for human geneticists (Capron, 19791. As the mapping research proceeds, it will become increasingly important to reconfirm the geneticist's traditional will- ingness to take on the burden of responsibility in decisions to break

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IMPLICATIONS FOR SOCIETY 101 confidentiality and to consider such a break only when the probability is high that serious, avoidable harm would otherwise come to iden- tifiable individuals (President's Commission, 19831. Interpreting the Medical Implications of Genetic Information Mapping and sequencing the human genome could provide a great deal of new knowledge about the genetic basis of human disease. However, the effects of that knowledge will be highly colored by the way its practical implications are interpreted. Without careful inter- pretation, information that links particular genes with disease can have harmful consequences for the people who carry those genes, quite apart from the disease itself. For example, without clear guidance it would be easy for people to misinterpret statistical correlations between clinical diseases and particular genetic markers, so that they take the discovery of the marker to be diagnostic of the disease. Genetic susceptibilities, predispositions, or risks for disease are variable and sometimes ambiguous concepts (I,appe, 1979a). If interpreted too strongly, preventive efforts could force certain groups or individuals to assume the social and psychological burdens of the afflicted unnecessarily. For example, only 0.10 percent of those who have the HLA B 27 marker associated with ankylosing spondylitis will ever develop the disease (Lappe, 1979b). That association, however, could heighten the anxieties and affect the plans of many more people if it is misunderstood or overstressed. These misinterpretations can also affect our social policies. Because of the connection we make between our genetic constitutions and our identities as individuals, diagnoses that trace diseases to our genes can also convey stigma and set the stage for social prejudice (Ablon, 1981~. It will be the burden of the researchers to interpret the correlations they draw as clearly as possible, to avoid simplistic associations between genetic markers and clinical conditions, and to educate clinicians and the public about the actual implications of their findings for individuals. Moreover, even where prognostic information about disease is interpreted correctly, it may still be clinically problematic. Where there is no effective therapy, new abilities to detect diseases in advance of their onset create harder choices for clinicians and patients. As we explore the human genome, more people will be faced with the dilemma that now faces those at risk from Huntington's disease: Is it better or not to know one's fate when it is out of one's control? At the same time, the very discoveries that exacerbate those dilemmas

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102 MAPPING AND SEQUENCING THE HUMAN GENOME will also be crucial steps in developing of the new therapies that can help resolve them. It will be important as the project proceeds to pursue those steps and attempt to narrow, rather than widen, the gap between our abilities to diagnose and treat disease (Fletcher and Jonsen, 1984~. The Use and Abuse of a Complete Become Map Probably the most contentious set of social problems resulting from a human genome project would be in the use of its findings. As a by- product of the project, a great number of new diagnostic tests for specific traits and conditions will become available. The scientific and medical communities will receive an increasing variety of screening requests, ranging between those from couples making reproductive decisions to those from employers planning personnel policies. The issues they will face in considering those requests again return to the very personal nature of the information the screening tests yield: Is it ever appropriate to screen an individual for the benefit or profit of some other person or institution? The most controversial applications of the new genetic screen would be their use by industries and insurance companies to identify individuals who might be occupational or insurance risks (Murray, 19831. As the human genome project proceeds, the ongoing discussion of these practices, and the need for sound social policy about them, will only intensify. Questions about protecting individual autonomy, the ownership of genetic information, and the interpretation of map- based medical prognoses will figure heavily in this discussion. To a large extent, any changes in social policy will reflect the ways those same questions are addressed by the scientific community in con- ducting the project. Ethical questions about the appropriate use of genetic information may also be raised within the more intimate circle of the nuclear family. For example, are there limits on the traits that parents may decide their children must have? Traditionally, these limits have been set at the boundaries of the pathological conditions; screening requests for traits that have no pathological import, such as the sex of the child, are usually denied (Juengst, 1987~. Yet the boundaries of conditions that might be regarded as pathological are vague. As genetic markers become available for an increasing range of traits, the ability to identify those markers prenatally will present difficult decisions for clinical geneticists: What levels of disease susceptibility or risk warrant

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IMPLICATIONS FOR SOCIETY 103 prenatal diagnosis? Are prenatal tests for somatically correctible genetic defects, diseases with late onset, or minor defects appropriate? Once again, these questions are not unique to the effort to map and sequence the human genome. They are all questions already presented to clinicians, geneticists, and prospective parents by current diagnostic techniques. By making an increasingly wide range of screening tests available, however, the human genome project is likely to increase the frequency with which these questions arise and the need for settled professional and social approaches to them. Fortunately, in the development of social policy and professional ethics with regard to these questions, it is already possible to draw on the resources of a large literature base and lively public discussion (for example, see Milunsky and Annas, 19851. Important steps toward social consensus on the issues have even taken place at the national level. For example, the reports of the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1982, 1983) already offer a useful orientation that can help meet the ethical challenges that mapping and sequencing the human genome would present. Finally, it should be noted that RF~Ps will continue to be developed, maps will be made, and genetic counseling will occur even without a concerted effort to map and sequence the human genome. The greater coordination and quality control that will result from a concerted effort will in fact benefit the public by reducing the chance of misuse of poorly organized information. REFERENCES Ablon, J. 1981. Stigmatized health conditions. Soc. Sci. Med. 15B:5-9. Capron, A. M 1979. Autonomy, confidentiality and quality care in genetic counseling. In A. M. Capron et al., eds. Genetic Counseling: Facts, Values, and Norms (Birth Defects: Original Article Series, vol. 15). Alan R. Liss, New York. Pp. 307-340. Fletcher, J., and A. Jonsen. 1984. Ethical considerations in prenatal diagnosis and treatment. In M. R. Harrison, M. S. Golbus, and R. A. Filly, eds. The Unborn Patient: Prenatal Diagnosis and Treatment. Grune and Stratton, New York. Pp. 159-167. Juengst, E. 1987. Prenatal diagnosis and the ethics of uncertainty. In J. F. Monagle, and D. C. Thomasa, eds. Medical Ethics: A Guide for Health Care Professionals. Aspen, Rockville, Md. Pp.23-32. Lappe, M. 1979a. Theories of genetic causation in human disease. In A. M. Capron et al., eds. Genetic Counseling: Facts, Values, and Norms (Birth Defects: Original Article Series, volume 15). Alan R. Liss, New York. Pp. 3~7. Lappe, M. 1979b. Genetic Politics: The Limits of Biological Control. Simon and Schuster, New York. Macklin, R. 1985. Mapping the human genome: Problems of privacy and free choice In

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104 MAPPING AND SEQUENCING THE HUMAN GENOME A. Milunsky and G. J. Annas, eds. Genetics and the Law III. Plenum, New York. Pp. 107-115 Milunsky, A., and G. J. Annas, eds. 1985. Genetics and the Law III. Plenum, New York. Murray, T. H. 1983. Genetic screening in the workplace: Ethical issues. J. Occup. Med. - 25:451~. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1982. Splicing Life: The Social and Ethical Issues of Genetic Engineenog with Human Beings. Government Printing Office, Washington, D.C. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1983. Screening and Counseling for Genetic Conditions: The Ethical, Social and Legal Implications of Genetic Screening, Counseling, and Education Programs. Government Printing Office, Washington, D.C. U.S. Congress House Committee on Science and Technology, Subcommittee on Investi- gations and Oversight. 1986. The Use of Human Biological Materials in the Development of Biomedical Products. 99th Cong., 1st sess. Government Printing Office, Washington, D.C.